USP24: Ubiquitin Specific Peptidase 24
A deubiquitinating enzyme involved in DNA damage repair, autophagy, and cancer progression.
Gene Information Card
| Symbol | USP24 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 24 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 23358 ncbi.nlm.nih.gov/gene/23358 |
| Ensembl ID | ENSG00000162402 |
| UniProt ID | Q9UPU5 |
| OMIM ID | 604554 |
| HGNC ID | 12623 |
| Aliases | USP24, deubiquitinating enzyme 24, ubiquitin thioesterase 24 |
Description
USP24 encodes a member of the ubiquitin-specific protease (USP) family of deubiquitinating enzymes. The protein removes ubiquitin from target proteins, regulating processes such as DNA damage repair, autophagy, and cell cycle progression. USP24 is implicated in cancer, neurodegenerative diseases, and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | USP24 overexpression promotes tumor growth by stabilizing c-Myc and enhancing DNA repair | PMID: 25605274 |
| Breast cancer | USP24 deubiquitinates and stabilizes BRCA1, contributing to chemoresistance | PMID: 28753428 |
| Parkinson's disease | USP24 variants associated with increased risk; regulates alpha-synuclein clearance via autophagy | PMID: 21665991 |
| Prostate cancer | USP24 upregulation correlates with poor prognosis and androgen receptor signaling | PMID: 30356049 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 10.2 | High expression |
| MCF7 (breast cancer) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | 0.0002 | Unknown functional effect |
| c.2876A>G (p.Asn959Ser) | Missense | 0.0001 | Reported in COSMIC |
| c.1234delC | Frameshift | <0.0001 | Loss of function |
| c.3456G>A (p.Met1152Ile) | Missense | 0.0003 | ClinVar uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing deubiquitinase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase stability or activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004843 - cysteine-type deubiquitinase activity | • GO:0006511 - ubiquitin-dependent protein catabolic process |
| • GO:0006281 - DNA repair | • GO:0006914 - autophagy |
| • GO:0005634 - nucleus | • GO:0005829 - cytosol |
Pathways
• hsa04120 - Ubiquitin mediated proteolysis
• hsa04210 - Apoptosis
• hsa04140 - Autophagy - animal
Protein Summary
USP24 is a 1,152-amino acid deubiquitinating enzyme with a catalytic USP domain. It removes ubiquitin from substrates such as c-Myc, BRCA1, and p53, thereby regulating their stability and activity. The protein is predominantly nuclear and cytoplasmic, with roles in DNA damage response, autophagy, and cell survival. Dysregulation of USP24 contributes to oncogenesis and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP24 Knockout HEK293 Cell Line | EDJ-KQ7987 | Human | 23358 | Details Get a Quote |
| USP24 Knockout A-549 Cell Line | EDJ-KQ33708 | Human | 23358 | Details Get a Quote |
| USP24 Knockout HCT 116 Cell Line | EDJ-KQ33709 | Human | 23358 | Details Get a Quote |
| USP24 Knockout HeLa Cell Line | EDJ-KQ33710 | Human | 23358 | Details Get a Quote |
| USP24 (NC_000001.11:g.55132659 T>C & 55132661 T>C) Point Mutation in A-549 Cell Line | EDC03185 | Human | 23358 | Details Get a Quote |
| USP24 Knockout HAP1 Cell Line | EDC08282 | Human | 23358 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
